{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA122817",
  "communityStandardTitle": [
    "NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3750683"
      },
      {
        "active": false,
        "id": "COSM5827626"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28045[alleleid]",
        "alleleId": 28045,
        "preferredName": "NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13006",
        "RCV": [
          "RCV000013880",
          "RCV002279713",
          "RCV003492293"
        ],
        "variationId": 13006
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-182554557-C-T",
        "id": "1-182554557-C-T",
        "variant": "1:182554557 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.182554557C>T?assembly=hg19",
        "id": "chr1:g.182554557C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.182585422C>T?assembly=hg38",
        "id": "chr1:g.182585422C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/486907",
        "rs": 486907
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-182554557-C-T?dataset=gnomad_r2_1",
        "id": "1-182554557-C-T",
        "variant": "1:182554557 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-182585422-C-T?dataset=gnomad_r3",
        "id": "1-182585422-C-T",
        "variant": "1:182585422 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-182585422-C-T?dataset=gnomad_r4",
        "id": "1-182585422-C-T",
        "variant": "1:182585422 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 182585422,
          "referenceAllele": "C",
          "start": 182585421
        }
      ],
      "hgvs": [
        "NC_000001.11:g.182585422C>T",
        "CM000663.2:g.182585422C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 182554557,
          "referenceAllele": "C",
          "start": 182554556
        }
      ],
      "hgvs": [
        "NC_000001.10:g.182554557C>T",
        "CM000663.1:g.182554557C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 180821180,
          "referenceAllele": "C",
          "start": 180821179
        }
      ],
      "hgvs": [
        "NC_000001.9:g.180821180C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6552,
          "referenceAllele": "G",
          "start": 6551
        }
      ],
      "hgvs": [
        "NG_009024.2:g.6552G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001386"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1639,
          "referenceAllele": "G",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010050",
      "geneNCBI_id": 6041,
      "geneSymbol": "RNASEL",
      "hgvs": [
        "ENST00000367559.7:c.1385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356530.3:p.Arg462Gln",
        "hgvsWellDefined": "ENSP00000356530.3:p.Arg462Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266454",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367559.7:c.1385G>A"
          },
          "RefSeq": {
            "hgvs": "NM_021133.4:c.1385G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356530.3:p.Arg462Gln"
          },
          "RefSeq": {
            "hgvs": "NP_066956.1:p.Arg462Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1639,
          "referenceAllele": "G",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010050",
      "geneNCBI_id": 6041,
      "geneSymbol": "RNASEL",
      "hgvs": [
        "ENST00000539397.1:c.1385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440844.1:p.Arg462Gln",
        "hgvsWellDefined": "ENSP00000440844.1:p.Arg462Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA122818",
      "coordinates": [
        {
          "allele": "A",
          "end": 1642,
          "referenceAllele": "G",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010050",
      "geneNCBI_id": 6041,
      "geneSymbol": "RNASEL",
      "hgvs": [
        "NM_021133.3:c.1385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066956.1:p.Arg462Gln",
        "hgvsWellDefined": "NP_066956.1:p.Arg462Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036851"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1668,
          "referenceAllele": "G",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010050",
      "geneNCBI_id": 6041,
      "geneSymbol": "RNASEL",
      "hgvs": [
        "XM_005245411.2:c.1385G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245468.1:p.Arg462Gln",
        "hgvsWellDefined": "XP_005245468.1:p.Arg462Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1668,
          "referenceAllele": "G",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010050",
      "geneNCBI_id": 6041,
      "geneSymbol": "RNASEL",
      "hgvs": [
        "XR_001737359.1:n.1668G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1668,
          "referenceAllele": "G",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010050",
      "geneNCBI_id": 6041,
      "geneSymbol": "RNASEL",
      "hgvs": [
        "XR_001737360.1:n.1668G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA122818",
      "coordinates": [
        {
          "allele": "A",
          "end": 1639,
          "referenceAllele": "G",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010050",
      "geneNCBI_id": 6041,
      "geneSymbol": "RNASEL",
      "hgvs": [
        "NM_021133.4:c.1385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066956.1:p.Arg462Gln",
        "hgvsWellDefined": "NP_066956.1:p.Arg462Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367559.7:c.1385G>A"
          },
          "RefSeq": {
            "hgvs": "NM_021133.4:c.1385G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356530.3:p.Arg462Gln"
          },
          "RefSeq": {
            "hgvs": "NP_066956.1:p.Arg462Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}